"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SEMA3E" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 459534	NC_000007.14:g.(?_83367566)_(83648562_?)del	LOC129998730, SEMA3E	Deletion	CHARGE syndrome	GUncertain significance
Select item 529136	NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr)	SEMA3E (D774Y +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 696607	NM_012431.3(SEMA3E):c.2316G>A (p.Thr772=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2714884	NM_012431.3(SEMA3E):c.2315C>T (p.Thr772Met)	SEMA3E (T712M +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 738651	NM_012431.3(SEMA3E):c.2307C>T (p.Pro769=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1059922	NM_012431.3(SEMA3E):c.2303dup (p.Pro769fs)	SEMA3E (P709fs +1 more)	Duplication (frameshift variant)	CHARGE syndrome	GUncertain significance
Select item 1111717	NM_012431.3(SEMA3E):c.2302C>T (p.Leu768=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2713563	NM_012431.3(SEMA3E):c.2300G>T (p.Arg767Leu)	SEMA3E (R767L +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 695746	NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GBenign/Likely benign
Select item 2713659	NM_012431.3(SEMA3E):c.2282C>G (p.Ser761Cys)	SEMA3E (S761C +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1061205	NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His)	SEMA3E (R700H +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 2795522	NM_012431.3(SEMA3E):c.2253T>C (p.Tyr751=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1967543	NM_012431.3(SEMA3E):c.2239T>A (p.Ser747Thr)	SEMA3E (S747T +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1513385	NM_012431.3(SEMA3E):c.2234C>T (p.Ser745Leu)	SEMA3E (S685L +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2878641	NM_012431.3(SEMA3E):c.2224C>A (p.Leu742Ile)	SEMA3E (L742I +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 374661	NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1387125	NM_012431.3(SEMA3E):c.2216G>A (p.Arg739Lys)	SEMA3E (R679K +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1969993	NM_012431.3(SEMA3E):c.2212_2215del (p.Lys738fs)	SEMA3E (K738fs +1 more)	Deletion (frameshift variant)	CHARGE syndrome	GUncertain significance
Select item 416920	NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GBenign
Select item 857679	NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu)	SEMA3E (D676E +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2421908	NM_012431.3(SEMA3E):c.2201G>C (p.Cys734Ser)	SEMA3E (C674S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3022108	NM_012431.3(SEMA3E):c.2199G>T (p.Trp733Cys)	SEMA3E (W673C +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1498300	NM_012431.3(SEMA3E):c.2193A>G (p.Lys731=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 567794	NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter)	SEMA3E (E730* +1 more)	Single nucleotide variant (nonsense)	CHARGE syndrome	GUncertain significance
Select item 2782411	NM_012431.3(SEMA3E):c.2187C>T (p.Cys729=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1433236	NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr)	SEMA3E (S720T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 252677	NM_012431.3(SEMA3E):c.2155T>G (p.Tyr719Asp)	SEMA3E (Y719D +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 459538	NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser)	SEMA3E (G718S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1614238	NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=)	SEMA3E	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GLikely benign
Select item 459537	NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val)	SEMA3E (I717V +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GBenign
Select item 915375	NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys)	SEMA3E (Q655K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 645948	NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn)	SEMA3E (K651N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2077215	NM_012431.3(SEMA3E):c.2109G>A (p.Ser703=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 705063	NM_012431.3(SEMA3E):c.2109G>T (p.Ser703=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2505	NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu)	SEMA3E (S703L +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 218701	NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile)	SEMA3E (S701I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 753476	NM_012431.3(SEMA3E):c.2097G>A (p.Gln699=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145629	NM_012431.3(SEMA3E):c.2079G>A (p.Arg693=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2765873	NM_012431.3(SEMA3E):c.2075A>G (p.His692Arg)	SEMA3E (H632R +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1139630	NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1004184	NM_012431.3(SEMA3E):c.2057A>T (p.Asp686Val)	SEMA3E (D626V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2139692	NM_012431.3(SEMA3E):c.2055C>T (p.Asp685=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1393173	NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly)	SEMA3E (D685G +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 955728	NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)	SEMA3E (D625N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 459536	NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser)	SEMA3E (N683S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2157045	NM_012431.3(SEMA3E):c.2035G>A (p.Glu679Lys)	SEMA3E (E619K +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1256196	NM_012431.3(SEMA3E):c.2034C>T (p.Val678=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome +2 more	GLikely benign
Select item 1047815	NM_012431.3(SEMA3E):c.2027A>G (p.Glu676Gly)	SEMA3E (E616G +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2994997	NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2148977	NM_012431.3(SEMA3E):c.2008T>C (p.Leu670=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1913589	NM_012431.3(SEMA3E):c.2006C>T (p.Thr669Ile)	SEMA3E (T609I +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2156122	NM_012431.3(SEMA3E):c.2004C>T (p.Ile668=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1370877	NM_012431.3(SEMA3E):c.1997G>A (p.Arg666His)	SEMA3E (R606H +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2834872	NM_012431.3(SEMA3E):c.1992G>T (p.Thr664=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1442240	NM_012431.3(SEMA3E):c.1992G>A (p.Thr664=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 810119	NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met)	SEMA3E (T604M +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 1079304	NM_012431.3(SEMA3E):c.1977T>C (p.His659=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2766085	NM_012431.3(SEMA3E):c.1970T>C (p.Val657Ala)	SEMA3E (V657A +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2715614	NM_012431.3(SEMA3E):c.1967C>T (p.Thr656Ile)	SEMA3E (T656I +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 751358	NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1896253	NM_012431.3(SEMA3E):c.1953C>T (p.Thr651=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1155573	NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1412136	NM_012431.3(SEMA3E):c.1939T>G (p.Ser647Ala)	SEMA3E (S587A +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2056822	NM_012431.3(SEMA3E):c.1932A>G (p.Leu644=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2848607	NM_012431.3(SEMA3E):c.1929G>C (p.Arg643Ser)	SEMA3E (R583S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 642340	NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe)	SEMA3E (L640F +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 1646095	NM_012431.3(SEMA3E):c.1914T>A (p.Gly638=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 577680	NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val)	SEMA3E (L637V +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1423868	NM_012431.3(SEMA3E):c.1900A>C (p.Lys634Gln)	SEMA3E (K574Q +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1367731	NM_012431.3(SEMA3E):c.1893A>C (p.Arg631Ser)	SEMA3E (R631S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1007643	NM_012431.3(SEMA3E):c.1892G>A (p.Arg631Lys)	SEMA3E (R571K +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2096455	NM_012431.3(SEMA3E):c.1890C>T (p.Asp630=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2959832	NM_012431.3(SEMA3E):c.1887T>A (p.Asp629Glu)	SEMA3E (D569E +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3004223	NM_012431.3(SEMA3E):c.1885G>T (p.Asp629Tyr)	SEMA3E (D569Y +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1520208	NM_012431.3(SEMA3E):c.1876G>A (p.Val626Met)	SEMA3E (V626M +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 799858	NM_012431.3(SEMA3E):c.1876-4G>T	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 1580747	NM_012431.3(SEMA3E):c.1876-5T>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 2021424	NM_012431.3(SEMA3E):c.1876-8T>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 1638219	NM_012431.3(SEMA3E):c.1876-11T>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 1627755	NM_012431.3(SEMA3E):c.1876-14T>A	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 2863730	NM_012431.3(SEMA3E):c.1875+20T>G	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 2082641	NM_012431.3(SEMA3E):c.1875+19T>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 2825279	NM_012431.3(SEMA3E):c.1875+17T>G	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 1537849	NM_012431.3(SEMA3E):c.1875+15C>A	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 1970693	NM_012431.3(SEMA3E):c.1862C>A (p.Thr621Lys)	SEMA3E (T561K +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2915336	NM_012431.3(SEMA3E):c.1861A>G (p.Thr621Ala)	SEMA3E (T561A +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2070684	NM_012431.3(SEMA3E):c.1857T>G (p.Arg619=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1052334	NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His)	SEMA3E (R559H +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 221681	NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys)	SEMA3E (R619C +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 2848211	NM_012431.3(SEMA3E):c.1850A>G (p.Lys617Arg)	SEMA3E (K617R +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2910962	NM_012431.3(SEMA3E):c.1834A>G (p.Ile612Val)	SEMA3E (I552V +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2694090	NM_012431.3(SEMA3E):c.1834del (p.Ile612fs)	SEMA3E (I612fs +1 more)	Deletion (frameshift variant)	CHARGE syndrome	GUncertain significance
Select item 702956	NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe)	SEMA3E (I612F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2844741	NM_012431.3(SEMA3E):c.1831G>A (p.Val611Ile)	SEMA3E (V551I +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2099117	NM_012431.3(SEMA3E):c.1828A>C (p.Lys610Gln)	SEMA3E (K550Q +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1113410	NM_012431.3(SEMA3E):c.1827G>A (p.Ala609=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2917435	NM_012431.3(SEMA3E):c.1826C>A (p.Ala609Glu)	SEMA3E (A609E +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1472116	NM_012431.3(SEMA3E):c.1826C>G (p.Ala609Gly)	SEMA3E (A609G +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2720446	NM_012431.3(SEMA3E):c.1822C>T (p.Gln608Ter)	SEMA3E (Q608* +1 more)	Single nucleotide variant (nonsense)	CHARGE syndrome	GUncertain significance
Select item 2730274	NM_012431.3(SEMA3E):c.1814G>A (p.Arg605Gln)	SEMA3E (R545Q +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance

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